Genetic Advances in Intellectual Disability

por Milani, Donatella, Ronzoni, Luisa, Esposito, Susanna
Publicado no J Pediatr Genet (2015)

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome

por Tucci, Arianna, Ronzoni, Luisa, Arduino, Carlo, Salmin, Paola, Esposito, Susanna, Milani, Donatella
Publicado no BMC Med Genet (2016)

Thalassemic erythrocytes release microparticles loaded with hemichromes by redox activation of p72Syk kinase

por Ferru, Emanuela, Pantaleo, Antonella, Carta, Franco, Mannu, Franca, Khadjavi, Amina, Gallo, Valentina, Ronzoni, Luisa, Graziadei, Giovanna, Cappellini, Maria Domenica, Turrini, Francesco
Publicado em 2014

Oxidative stress modulates heme synthesis and induces peroxiredoxin-2 as a novel cytoprotective response in β-thalassemic erythropoiesis

por De Franceschi, Lucia, Bertoldi, Mariarita, De Falco, Luigia, Santos Franco, Sara, Ronzoni, Luisa, Turrini, Franco, Colancecco, Alessandra, Camaschella, Clara, Cappellini, Maria Domenica, Iolascon, Achille
Publicado em 2011

Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene

por Punzo, Francesca, Bertoli-Avella, Aida M, Scianguetta, Saverio, Della Ragione, Fulvio, Casale, Maddalena, Ronzoni, Luisa, Cappellini, Maria D, Forni, Gianluca, Oostra, Ben A, Perrotta, Silverio
Publicado em 2011

A highly conserved SOX6 double binding site mediates SOX6 gene downregulation in erythroid cells

por Cantu', Claudio, Grande, Vito, Alborelli, Ilaria, Cassinelli, Letizia, Cantu’, Ileana, Colzani, Maria Teresa, Ierardi, Rossella, Ronzoni, Luisa, Cappellini, Maria Domenica, Ferrari, Giuliana, Ottolenghi, Sergio, Ronchi, Antonella
Publicado em 2011

EPO Receptor Gain-of-Function Causes Hereditary Polycythemia, Alters CD34(+) Cell Differentiation and Increases Circulating Endothelial Precursors

por Perrotta, Silverio, Cucciolla, Valeria, Ferraro, Marcella, Ronzoni, Luisa, Tramontano, Annunziata, Rossi, Francesca, Scudieri, Anna Chiara, Borriello, Adriana, Roberti, Domenico, Nobili, Bruno, Cappellini, Maria Domenica, Oliva, Adriana, Amendola, Giovanni, Migliaccio, Anna Rita, Mancuso, Patrizia, Martin-Padura, Ines, Bertolini, Francesco, Yoon, Donghoon, Prchal, Josef T., Della Ragione, Fulvio
Publicado em 2010

Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

por Hill, Melissa, Johnson, Jo-Ann, Langlois, Sylvie, Lee, Hyun, Winsor, Stephanie, Dineley, Brigid, Horniachek, Marisa, Lalatta, Faustina, Ronzoni, Luisa, Barrett, Angela N, Advani, Henna V, Choolani, Mahesh, Rabinowitz, Ron, Pajkrt, Eva, van Schendel, Rachèl V, Henneman, Lidewij, Rommers, Wieke, Bilardo, Caterina M, Rendeiro, Paula, Ribeiro, Maria João, Rocha, José, Bay Lund, Ida Charlotte, Petersen, Olav B, Becher, Naja, Vogel, Ida, Stefánsdottir, Vigdis, Ingvarsdottir, Sigrun, Gottfredsdottir, Helga, Morris, Stephen, Chitty, Lyn S
Publicado no Eur J Hum Genet (2016)